Linked Data
dbSNP Id:
rs201289840
ExAC:
17:39768816 G / T
gnomAD v2:
17-39768816-G-T
gnomAD v3:
17-41612564-G-T
gnomAD v4:
17-41612564-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612564G>T , CM000679.2:g.41612564G>T | GRCh38 |
| NC_000017.10:g.39768816G>T , CM000679.1:g.39768816G>T | GRCh37 |
| NC_000017.9:g.37022342G>T | NCBI36 |
| NG_008301.1:g.5264C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.125C>A MANE Select | ENSP00000301653.3:p.Ala42Asp | |
| ENST00000301653.8:c.125C>A | ENSP00000301653.3:p.Ala42Asp | |
| ENST00000588319.1:n.202C>A | ||
| ENST00000590990.1:c.125C>A | ENSP00000467105.1:p.Ala42Asp | |
| ENST00000593067.1:c.-313+226C>A | ENSP00000467124.1:n.-313+226C>A | |
| NM_005557.3:c.125C>A | NP_005548.2:p.Ala42Asp | |
| NM_005557.4:c.125C>A MANE Select | NP_005548.2:p.Ala42Asp |